A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability
| Autor: | Häusler, Martin G., Begemann, Matthias, Lidov, Hart G., Kurth, Ingo, Darras, Basil T., Elbracht, Miriam |
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| Zdroj: | In European Journal of Medical Genetics April 2020 63(4) |
| Databáze: | ScienceDirect |
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